Homo sapiens (human): 129880
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Entry
129880 CDS
T01001
Symbol
BBS5
Name
(RefSeq) Bardet-Biedl syndrome 5
KO
K16748
Bardet-Biedl syndrome 5 protein
Organism
hsa
Homo sapiens (human)
Disease
H00418
Bardet-Biedl syndrome
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09180 Brite Hierarchies
09183 Protein families: signaling and cellular processes
03037 Cilium and associated proteins [BR:
hsa03037
]
129880 (BBS5)
Cilium and associated proteins [BR:
hsa03037
]
Primary cilia and associated proteins
BBSome
129880 (BBS5)
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Ortholog
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Gene cluster
GFIT
Motif
Pfam:
BBL5
bPH_3
Vps36_ESCRT-II
Voldacs
PH_TFIIH
U6-snRNA_bdg
Motif
Other DBs
NCBI-GeneID:
129880
NCBI-ProteinID:
NP_689597
OMIM:
603650
HGNC:
970
Ensembl:
ENSG00000163093
UniProt:
Q8N3I7
A0A0S2Z626
Structure
PDB
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All DBs
Position
2:169479494..169506655
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AA seq
341 aa
AA seq
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MSVLDALWEDRDVRFDLSAQQMKTRPGEVLIDCLDSIEDTKGNNGDRGRLLVTNLRILWH
SLALSRVNVSVGYNCILNITTRTANSKLRGQTEALYILTKCNSTRFEFIFTNLVPGSPRL
FTSVMAVHRAYETSKMYRDFKLRSALIQNKQLRLLPQEHVYDKINGVWNLSSDQGNLGTF
FITNVRIVWHANMNDSFNVSIPYLQIRSIKIRDSKFGLALVIESSQQSGGYVLGFKIDPV
EKLQESVKEINSLHKVYSASPIFGVDYEMEEKPQPLEALTVEQIQDDVEIDSDGHTDAFV
AYFADGNKQQDREPVFSEELGLAIEKLKDGFTLQGLWEVMS
NT seq
1026 nt
NT seq
+upstream
nt +downstream
nt
atgtcggtgctggatgcgctttgggaggatcgggatgtccgtttcgacctgtccgcgcag
caaatgaaaacaagacctggagaagtccttattgattgtttagattccattgaagacacc
aaaggaaataatggagatagaggtagactcttggtaacaaatttaagaattctctggcac
tctttggcattatcaagagtcaatgtttctgtcggttacaattgcatattgaatattaca
acaaggactgctaactctaaattacgaggccaaactgaagctctctatatactaacaaaa
tgtaacagtactcgttttgaatttatatttacaaatttggttcctggaagccctagactt
tttacttctgtgatggcagtacacagagcttatgaaacttctaaaatgtatcgtgatttt
aaattaagaagtgcactaattcagaacaagcaactaagactgttgccacaagaacatgta
tatgataaaataaatggagtttggaatttatccagtgatcagggcaatttaggaaccttt
tttattaccaatgtgagaattgtgtggcatgcaaatatgaatgatagttttaatgtcagt
ataccatatctgcaaattcgttcaataaagattagagattcaaaatttggtttagctctt
gtcatagaaagctctcagcagagtggtggatatgttcttggctttaaaatagatcctgtg
gaaaaactacaagaatcagttaaggaaatcaattcacttcacaaagtctattctgccagt
cccatatttggagttgattatgagatggaagaaaagccccagccgctcgaagctctgaca
gtcgaacaaattcaagatgatgtagaaatagactctgatggtcacacggatgcttttgtg
gcttattttgctgatggcaataagcaacaagatcgtgaacctgtattttcagaagaactg
gggcttgcaatagagaaattgaaggatggattcaccctacagggactttgggaagtaatg
agttga
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